What are the treatment options for Osler-Weber-Rendu disease (OWRD) (hereditary hemorrhagic telangiectasia [HHT])?

Updated: Oct 06, 2020
  • Author: Klaus-Dieter Lessnau, MD, FCCP; Chief Editor: Vincent Lopez Rowe, MD  more...
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Answer

Medical therapy and surgical treatment in patients with Osler-Weber-Rendu disease (OWRD; ie, hereditary hemorrhagic telangiectasia [HHT]), are aimed at decreasing the amount of hemorrhage and minimizing the sequelae of arteriovenous malformations (AVMs), which may develop in multiple organ systems.

Indications for intervention vary according to site of involvement and presentation. One third of cases of are mild, one third are moderate, and one third are severe. In mild cases of HHT, no treatment is necessary. In other cases, pharmacologic management may be effective. When nonpharmacologic treatment is called for, it can often be accomplished via catheter-based therapies that render surgical intervention (eg, thoracotomy or craniotomy) unnecessary.

Individual skin lesions may be obliterated with cauterization, hypertonic saline sclerotherapy, or dye laser treatment. [101]

In severe cases of HHT, recurrent epistaxis refractory to ablative treatment is treated surgically with nasal septum skin transplants by using skin taken from the lower trunk. Severe cases of HHT may respond to estrogen therapy. [102]

Control of intermittent gastrointestinal (GI) bleeding may be achieved medically. However, brisk hemorrhage may call for endoscopic treatment or surgical resection.

Pulmonary hemorrhage may be treated surgically by using silicone balloon tamponade or other means. Embolization (embolotherapy) or surgical resection is indicated for pulmonary AVM if it is localized and accessible, with the goal of limiting the risks of embolic central nervous system (CNS) complications, hemodynamic sequelae, or hemorrhage.

Hemodynamically significant shunt from hepatic AVM may be treatable with embolization to stabilize heart failure or encephalopathy. Extensive or symptomatic liver disease may warrant evaluation for liver transplantation.

Currently available therapies, including microsurgery, embolization, and radiosurgery, are invasive and associated with considerable adverse effects. No specific medical therapy is available for brain AVM patients. [15] For selected CNS lesions, neurosurgical resection may be indicated. Embolotherapy and radiotherapy may be alternative options, depending on lesion morphology.

Antibiotic prophylaxis should be considered before surgical or dental procedures in all patients with known pulmonary AVMs or positive contrast echocardiography findings (agitated saline solution transthoracic contrast echocardiography [TTCE] grade 1 or higher).

Studies recommend that women with HHT who conceive should be considered to have high-risk pregnancies because of rare major complications and improved survival outcome following prior recognition. [79]

In most patients, no special diet is required. Iron can be depleted if the patient experiences chronic blood loss. Folate requirements can be high if the bone marrow is chronically activated. Most patients can continue normal activities.

Prospective trials aimed at determining ideal management of HHT have been limited by the small and varied population and by the multiorgan nature of the disease. A coordinated team approach is recommended. Preclinical work targeting endoglin (also known as CD105) has shown promising results in cancer-related research. [103] Such studies may complement concurrent HHT-specific research in developing new therapies. [104]

In September 2020, the Second International Hereditary Hemorrhagic Telangiectasia (HHT) Guidelines, aimed at developing evidence-based consensus guidelines for the management and prevention of HHT-related symptoms and complications, were published. [105]


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